Canonical Allele Identifier: CA339957925

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2169545
• ClinVar RCV Id: RCV003084880
• dbSNP Id: rs1451575059
• gnomAD v2: 1-43395374-G-C
• gnomAD v4: 1-42929703-G-C
• MyVariant Identifiers: chr1:g.43395374G>C (hg19) ; chr1:g.42929703G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929703G>C , CM000663.2:g.42929703G>C	GRCh38
NC_000001.10:g.43395374G>C , CM000663.1:g.43395374G>C	GRCh37
NC_000001.9:g.43167961G>C	NCBI36
NG_008232.1:g.34474C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.757C>G MANE Select	ENSP00000416293.2:p.Arg253Gly
ENST00000669445.1:c.87C>G
ENST00000674765.1:c.757C>G	ENSP00000501811.1:p.Arg253Gly
ENST00000675112.1:n.780C>G
ENST00000676254.1:n.1206C>G
ENST00000426263.7:c.757C>G	ENSP00000416293.2:p.Arg253Gly
ENST00000439722.2:c.636C>G	ENSP00000395521.2:n.636C>G
ENST00000475162.3:c.415+923C>G
ENST00000630287.2:c.*72C>G	ENSP00000486694.1:n.*72C>G
NM_006516.2:c.757C>G	NP_006507.2:p.Arg253Gly
NM_006516.3:c.757C>G	NP_006507.2:p.Arg253Gly
NM_006516.4:c.757C>G MANE Select	NP_006507.2:p.Arg253Gly